Canonical Allele Identifier: CA486098546
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1981413
ClinVar RCV Id: RCV002794769
dbSNP Id: rs796052464
MyVariant Identifiers: chr14:g.29237136C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767930C>T , CM000676.2:g.28767930C>T GRCh38
NC_000014.8:g.29237136C>T , CM000676.1:g.29237136C>T GRCh37
NC_000014.7:g.28306887C>T NCBI36
NG_009367.1:g.5850C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.651C>T ENSP00000516406.1:p.Tyr217=
ENST00000313071.7:c.651C>T MANE Select ENSP00000339004.3:p.Tyr217=
ENST00000313071.6:c.651C>T ENSP00000339004.3:p.Tyr217=
NM_005249.4:c.651C>T NP_005240.3:p.Tyr217=
NM_005249.5:c.651C>T MANE Select NP_005240.3:p.Tyr217=
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